Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000456887 | SCV000554488 | likely benign | Brugada syndrome 8 | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721505 | SCV000728542 | likely benign | not provided | 2019-06-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621699 | SCV000737509 | likely benign | Cardiovascular phenotype | 2016-08-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Clinical Genetics, |
RCV000613940 | SCV001924775 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001721505 | SCV001964603 | likely benign | not provided | no assertion criteria provided | clinical testing |